|
rs1304645785
|
|
Werner Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study, we have characterized the G574R missense mutation, which was recently identified in a WS patient.
|
23583337 |
2013 |
|
rs1346044
|
|
Werner Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.
|
26690424 |
2015 |
|
rs188554751
|
|
Werner Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women.
|
19205873 |
2009 |
|
rs3087425
|
|
Werner Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.
|
28276523 |
2017 |
|
rs2230009
|
|
Werner Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Five SNPs (α-ʟ-iduronidase rs3755955, C7orf58 rs190543052, homeobox C4 rs75256744, G patch domain-containing gene 1 rs2287679, and Werner syndrome rs2230009) showed a significant association (P < 0.05) with the prevalence of femoral fracture in 924 male subjects.
|
26462479 |
2016 |
|
rs2230009
|
|
Werner Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population.
|
25637295 |
2015 |
|
rs2230009
|
|
Werner Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Interestingly, a WRN cDNA expression vector bearing a valine at position 114 instead of isoleucine significantly affected cholesterol efflux in WS fibroblasts.
|
23523974 |
2013 |
|
rs113993961
|
|
Werner Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of WRN mutations in Werner syndrome patients.
|
16673358 |
2006 |
|
rs113993961
|
|
Werner Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products.
|
10543396 |
1999 |
|
rs113993961
|
|
Werner Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of Werner's syndrome heterozygotes in Japan.
|
10347997 |
1999 |
|
rs113993961
|
|
Werner Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population.
|
9225981 |
1997 |
|
rs113993961
|
|
Werner Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Positional cloning of the Werner's syndrome gene.
|
8602509 |
1996 |
|
rs1198210848
|
|
Werner Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121908446
|
|
Werner Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.
|
9012406 |
1997 |
|
rs121908446
|
|
Werner Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Positional cloning of the Werner's syndrome gene.
|
8602509 |
1996 |
|
rs121908447
|
|
Werner Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1244318419
|
|
Werner Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1281075870
|
|
Werner Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The spectrum of WRN mutations in Werner syndrome patients.
|
16673358 |
2006 |
|
rs1284409960
|
|
Werner Syndrome
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1303126572
|
|
Werner Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1361270203
|
|
Werner Syndrome
|
CCT |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1383589957
|
|
Werner Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay.
|
15888165 |
2005 |
|
rs143916053
|
|
Werner Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of WRN mutations in Werner syndrome patients.
|
16673358 |
2006 |
|
rs1554519254
|
|
Werner Syndrome
|
GAA |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1554519449
|
|
Werner Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The spectrum of WRN mutations in Werner syndrome patients.
|
16673358 |
2006 |